Perinatal Intracranial Hemorrhage as First Manifestation of Congenital Hypofibrinogenemia

1996 ◽  
Vol 2 (1) ◽  
pp. 60-63 ◽  
Author(s):  
Rossella Paolini ◽  
Maria Teresa Sartori ◽  
Francesco Fiorin ◽  
Marino Gorinati ◽  
Giuseppe Boeri ◽  
...  
Keyword(s):  
Family History ◽  
Intracranial Hemorrhage ◽  
Plasma Levels ◽  
Autosomal Recessive ◽  
Phenotypic Expression ◽  
Coagulation Study ◽  
The Family ◽  
Hemorrhagic Tendency ◽  
Congenital Hypofibrinogenemia

We describe a new case of congenital hypofi brinogenemia revealed by the dramatic occurrence of a perinatal intracranial hemorrhage, which resulted in dif fuse multicystic encephalopathy with severe hydroceph alus. The family history was negative for hemorrhagic tendency, but the assessment of a complete coagulation study showed the presence of low fibrinogen coagulant and antigen plasma levels both in the patient and in her 5-year-old healthy sister. Because the hereditary trans mission of the disease is autosomal recessive, similar fi brinogen concentrations were expected in the two af fected sisters. However, the patient showed lower levels than the sister (14 mg/dl and 46 mg/dl, respectively): a different phenotypic expression of the disorder or the dif ferent age of the two sisters could provide some explana tion. Moreover, we emphasize the importance of neonatal coagulative screening for the diagnosis of such defects.

HEREDITARY AND ENVIRONMENTAL FACTORS IN THE PATHOGENESIS OF RHEUMATIC FEVER

PEDIATRICS ◽  
1957 ◽  
Vol 19 (5) ◽  
pp. 908-915
Author(s):  
Eugene F. Diamond
Keyword(s):  
Family History ◽  
Rheumatic Fever ◽  
Autosomal Recessive ◽  
Positive Family History ◽  
Recessive Gene ◽  
Environmental Groups ◽  
Environmental Group ◽  
The Family ◽  
History Of ◽  
Unfavorable Environmental Factor

A study of cases of rheumatic fever admitted to La Rabida Sanitarium over a 5-year period was carried out to evaluate heredity and environment as etiologic factors in rheumatic disease. The incidence of rheumatic fever was shown to be higher in families where one or both parents were known to have a positive family history of rheumatic fever. The incidence of rheumatic fever was compared in environmental groups. A totally unfavorable environment was shown to increase the incidence of rheumatic fever. No single unfavorable environmental factor changed the incidence of rheumatic fever. The incidence of rheumatic fever in each environmental group was higher when there was a positive family history for rheumatic fever, indicating an hereditary factor in the family incidence of rheumatic fever. Analysis of the various mating types in the families with a positive rheumatic trait was carried out. Agreement with a simple autosomal recessive gene inheritance was obtained in families where both parents had a definite family history, but no agreement was obtained in cases where only one parent gave a positive family history.

Severe prekallikrein deficiency due to a compound heterozygosis in the KLKB1-gene

2009 ◽  
Vol 29 (02) ◽  
pp. 187-189 ◽  
Author(s):  
L. Kochhan ◽  
P. Heuchel ◽  
J. Jenderny ◽  
B. Maak
Keyword(s):  
Family History ◽  
Reference Range ◽  
The Other ◽  
Paternal Allele ◽  
Thrombin Time ◽  
Base Exchange ◽  
Coagulation Study ◽  
The Family ◽  
Prolonged Aptt ◽  
History Of

SummaryA 14 year old boy was referred to us for a detailed coagulation study because a previously performed aPTT has been found prolonged. The boy had no history of bleeding symptoms and also the family history was negative for bleeding or thrombotic events. The aPTT in the patient was 96 s (reference range: 24–36 s), prothrombin time and thrombin time were both normal.As the cause for the prolonged aPTT we identified a severe prekallikrein deficiency (prekallikrein activity < 1%). The prekallikrein deficiency results from two mutations in the KLKB 1-gene: first, an insertion of 1 bp in codon 149 in exon 5 and, second, a base exchange Cys 548 (TGC) > Tyr (TAC) in exon 14. The boy inherited the first mutation from his father and the second from his mother. The mutation in the paternal allele was not described before the completion of our study. There are two brothers of the propositus, one with normal prekallikrein activity and no mutations in the KLKB1-gene, the other showed the same constellation as the propositus.

scholarly journals Profil Pohon Keluarga (Pedigree) Siswa Dengan Intellectual Disability (Id) Dan Multiple Congenital Anomaly (MCA) Di SLB Negeri Kendal

2020 ◽  
Vol 4 (1) ◽  
pp. 15-21
Author(s):  
Hesty Wahyuningsih ◽  
Anggari Linda Destiana ◽  
Nura Eky Vikawati
Keyword(s):  
Family History ◽  
Autosomal Recessive ◽  
Chromosomal Abnormalities ◽  
Special School ◽  
Counseling Session ◽  
Inheritance Pattern ◽  
Multiple Congenital Anomaly ◽  
Interview Method ◽  
Three Generations ◽  
The Family

Pedigree construction is one of the ways to seek the inheritance pattern of disease. Three generations pedigree has many benefit in genetic counseling session particularly in establishing a specific inheritance pattern such as autosomal recessive or dominant. This research aimed to analyze three generations pedigree in the family of ID and MCA patients in the Special school of Kendal. This is a descriptive observational study using the interview method in 33 student guardians or parents of ID and MCA students. Twenty-five of 33 respondents collects the complete data. This study showed that three generations of pedigree construction of 8 respondents could not conclude the inheritance pattern. The data showed that two pedigree are suspect of chromosomal abnormalities in the presence of family history with similar disorder, family history with ID and MCA, and family history with IUFD or stillbirth. Further investigation using cytogenetics, FISH, and microarray is needed to establish the diagnosis

scholarly journals MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism

2020 ◽  
Vol 6 (2) ◽  
pp. e399 ◽  
Author(s):  
Viorica Chelban ◽  
Miryam Carecchio ◽  
Gillian Rea ◽  
Abdalla Bowirrat ◽  
Salman Kirmani ◽  
...  
Keyword(s):  
Family History ◽  
Autosomal Recessive ◽  
Age At Onset ◽  
Significant Proportion ◽  
Phenotypic Expression ◽  
Cortical Atrophy ◽  
Atypical Parkinsonism ◽  
Multicentric Study ◽  
Psychiatric Disturbances ◽  
Central Pontine

ObjectiveTo identify the phenotypic, neuroimaging, and genotype-phenotype expression of MYORG mutations.MethodsUsing next-generation sequencing, we screened 86 patients with primary familial brain calcification (PFBC) from 60 families with autosomal recessive or absent family history that were negative for mutations in SLC20A2, PDGFRB, PDGBB, and XPR1. In-depth phenotyping and neuroimaging investigations were performed in all cases reported here.ResultsWe identified 12 distinct deleterious MYORG variants in 7 of the 60 families with PFBC. Overall, biallelic MYORG mutations accounted for 11.6% of PFBC families in our cohort. A heterogeneous phenotypic expression was identified within and between families with a median age at onset of 56.4 years, a variable combination of parkinsonism, cerebellar signs, and cognitive decline. Psychiatric disturbances were not a prominent feature. Cognitive assessment showed impaired cognitive function in 62.5% of cases. Parkinsonism associated with vertical nuclear gaze palsy was the initial clinical presentation in 1/3 of cases and was associated with central pontine calcifications. Cerebral cortical atrophy was present in 37% of cases.ConclusionsThis large, multicentric study shows that biallelic MYORG mutations represent a significant proportion of autosomal recessive PFBC. We recommend screening MYORG mutations in all patients with primary brain calcifications and autosomal recessive or negative family history, especially when presenting clinically as atypical parkinsonism and with pontine calcification on brain CT.

CONGENITAL DEFICIENCY OF FACTOR VII ASSOCIATED WITH HEMORRHAGIC DISEASE OF THE NEWBORN

PEDIATRICS ◽  
1960 ◽  
Vol 25 (1) ◽  
pp. 101-105
Author(s):  
S. Frederick Rabiner ◽  
Myron Winick ◽  
Carl H. Smith
Keyword(s):  
Family History ◽  
Congenital Abnormality ◽  
Congenital Abnormalities ◽  
Factor Vii ◽  
Severe Bleeding ◽  
Hemorrhagic Disease ◽  
Newborn Period ◽  
Congenital Deficiency ◽  
Coagulation Study ◽  
The Family

Early diagnosis of congenital abnormalities of coagulation may be masked by the clotting defects associated with the newborn period and mistaken for hemorrhagic disease of the newborn. A case is presented which illustrates this problem. To exclude a congenital defect, a careful family history should be obtained and a complete coagulation study performed on all infants with severe hemorrhagic manifestations. The diagnosis of hemorrhagic disease of the newborn should not be assumed in such cases. If there is evidence to support the diagnosis of a congenital abnormality, either from the family history or from the coagulation studies, or should there be a lack of response to vitamin K in an infant with severe bleeding, replacement therapy with plasma or serum should be instituted immediately. Repeated coagulation studies will eventually demonstrate the congenital abnormality and should be performed in suspected cases.

Antithrombin III Alger: A New Homozygous AT III Variant

1986 ◽  
Vol 55 (02) ◽  
pp. 218-221 ◽  
Author(s):  
A M Fischer ◽  
P Cornu ◽  
C Sternberg ◽  
F Mériane ◽  
M D Dautzenberg ◽  
...  
Keyword(s):  
Family History ◽  
Antithrombin Iii ◽  
Antigen Concentration ◽  
Crossed Immunoelectrophoresis ◽  
The Family ◽  
At Iii ◽  
Molecular Abnormality ◽  
Slow Moving ◽  
Cofactor Activity ◽  
Plasma Heparin

SummaryA qualitative abnormality of antithrombin III (AT III) was found in the plasma of a 41-year old patient. The plasmatic AT III antigen concentration was 130% and the progressive anti-F IIa and anti-F Xa activities were normal (105% and 137%). The plasma heparin cofactor activity was less than 10%, when measured by F Ila or F Xa inhibition. Crossed immunoelectrophoresis of AT III in the presence of heparin revealed in the plasma an abnormal slow-moving peak. When tested by affinity chromatography on heparin Sepharose, this abnormal AT III did not bind to heparin. Among the investigated relatives, 5 subjects had normal AT III levels, whatever the test used, the nine others having reduced levels of antithrombin heparin cofactor activity (45-61%) but normal levels of immunoreactive AT III (97-122%). Consanguinity was found in the family history. We therefore considered our patient as homozygous for an AT III molecular abnormality affecting the binding site for heparin.

The Dupont family: collectors, dealers and naturalists in nineteenth-century Paris

2016 ◽  
Vol 43 (2) ◽  
pp. 191-207 ◽  
Author(s):  
Richard Mearns ◽  
Laurent Chevrier ◽  
Christophe Gouraud
Keyword(s):  
Nineteenth Century ◽  
Family History ◽  
Natural History ◽  
North Africa ◽  
Special Interest ◽  
Early Life ◽  
Anatomical Models ◽  
The Family ◽  
Small Collection

In the early part of the nineteenth century the Dupont brothers ran separate natural history businesses in Paris. Relatively little is known about their early life but an investigation into the family history at Bayeux corrects Léonard Dupont's year of birth from 1795 to 1796. In 1818 Léonard joined Joseph Ritchie's expedition to North Africa to assist in collecting and preparing the discoveries but he did not get beyond Tripoli. After 15 months he came back to Paris with a small collection from Libya and Provence, and returned to Provence in 1821. While operating as a dealer-naturalist in Paris he published Traité de taxidermie (1823, 1827), developed a special interest in foreign birds and became well known for his anatomical models in coloured wax. Henry Dupont sold a range of natural history material and with his particular passion for beetles formed one of the finest collections in Europe; his best known publication is Monographie des Trachydérides (1836–1840). Because the brothers had overlapping interests and were rarely referred to by their forenames there has been confusion between them and the various eponyms that commemorate them. Although probably true, it would be an over-simplification to state that birds of this era named for Dupont refer to Léonard Dupont, insects to Henry Dupont, and molluscs to their mother.

scholarly journals Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

2021 ◽  
Vol 22 (9) ◽  
pp. 4700
Author(s):  
Michelle M. Monasky ◽  
Emanuele Micaglio ◽  
Giuseppe Ciconte ◽  
Ilaria Rivolta ◽  
Valeria Borrelli ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Electrophysiological Study ◽  
Functional Characterization ◽  
The Family ◽  
Novel Variant ◽  
History Of ◽  
Scn5a Gene

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history in diagnosis and risk stratification. The family history was collected for a proband who presented with a personal history of aborted cardiac arrest and in whom a novel variant in the SCN5A gene was found. Living family members underwent ajmaline testing, electrophysiological study, and genetic testing to determine genotype-phenotype segregation, if any. Patch-clamp experiments on transfected human embryonic kidney 293 cells enabled the functional characterization of the SCN5A novel variant in vitro. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.5000T>A (p.Val1667Asp) in the SCN5A gene, and demonstrate its segregation with a severe form of BrS and multiple sudden deaths. Functional data revealed a loss of function of the protein affected by the variant. These results provide the first disease association with this variant and demonstrate the usefulness of genetic testing for diagnosis and risk stratification in certain patients. This study also demonstrates the usefulness of collecting the family history, which can assist in understanding the severity of the disease in certain situations and confirm the importance of the functional studies to distinguish between pathogenic mutations and harmless genetic variants.

scholarly journals Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Samina Yasin ◽  
Outi Makitie ◽  
Sadaf Naz
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Loss Of Function ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Skeletal Malformations ◽  
Tarsal Bones ◽  
The Family ◽  
Heterozygous Carriers

Abstract Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height. Case presentation We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature. Conclusion Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

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